Pyruvate dehydrogenase deficiency caused by a 33 base pair duplication in the PDH E1 alpha subunit.

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Hansen LL, Horn N, Dahl HH, Kruse TA

Pyruvate dehydrogenase deficiency caused by a 33 base pair duplication in the PDH E1 alpha subunit.

Hum Mol Genet. 1994 Jun;3(6):1021-2.

PubMed ID
7545958 [ View in PubMed
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Polypeptides
NameUniProt ID
Pyruvate dehydrogenase E1 component subunit alpha, somatic form, mitochondrialP08559Details